Variant report

Variant	rs2711695
Chromosome Location	chr12:47417122-47417123
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10785649	0.93[EUR][1000 genomes]
rs10881023	0.93[EUR][1000 genomes]
rs10881025	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11183695	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2263492	0.87[EUR][1000 genomes]
rs2408647	0.87[EUR][1000 genomes]
rs2522258	0.87[EUR][1000 genomes]
rs2522263	0.83[EUR][1000 genomes]
rs2522269	0.87[EUR][1000 genomes]
rs2522275	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2711698	0.89[ASN][1000 genomes]
rs2711699	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2711702	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4768769	0.92[EUR][1000 genomes]
rs7139072	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7305283	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7978006	0.93[EUR][1000 genomes]
rs7979771	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1845143	chr12:47051076-47431496	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv469368	chr12:47374908-47675680	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv558784	chr12:47374908-47675680	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47411000-47418200	Enhancers	NHEK	skin
2	chr12:47411200-47417600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:47413800-47418000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:47413800-47418400	Enhancers	HSMMtube	muscle
5	chr12:47414000-47417200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:47414000-47418400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr12:47414000-47418600	Enhancers	HSMM	muscle
8	chr12:47414000-47418800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:47414800-47417600	Weak transcription	Liver	Liver
10	chr12:47414800-47417800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:47415200-47417200	Enhancers	NHLF	lung
12	chr12:47415200-47417600	Enhancers	HUVEC	blood vessel
13	chr12:47415200-47418600	Enhancers	HMEC	breast
14	chr12:47415200-47419200	Enhancers	Osteobl	bone
15	chr12:47415400-47417400	Enhancers	NH-A	brain
16	chr12:47415400-47417600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:47416400-47417200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:47416400-47418200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:47416600-47419400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr12:47416600-47422800	Weak transcription	A549	lung
21	chr12:47416800-47417600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr12:47416800-47417800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:47416800-47418400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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